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The National Institute of Neurological Disorders and Stroke, part of the National Institutes of Health, is looking for individuals to participate in clinical studies. Participating in clinical trials allows you to play an active role in research on the nature and causes of many disorders of the brain and nervous system, and to possibly help physician-scientists develop future treatments. The information below is designed to help you quickly learn about actively recruiting research studies for which you or someone you know may be eligible.

Description:

The purpose of this study (13-N-0188) is to describe the natural history of disease in people who carry a repeat expansion mutation in the C9ORF72 gene. This gene can cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The second goal of this study is to find out if C9ORF72 biomarkers relate to how the disease progresses.

ALS, also called Lou Gehrig's disease, is a rapidly progressive, fatal neurological disease. It attacks the nerve cells which control voluntary muscles. FTD describes a group of diseases which cause the degeneration of nerve cells in the frontal and temporal lobes of the brain. FTD is the second most common cause of early-onset dementia behind Alzheimer's disease.

A repeat expansion gene mutation occurs when a small section of DNA is repeated over and over again. Normal C9ORF72 genes have less than twenty repeats. Those with repeat expansion mutations have hundreds or thousands of repeats. In this study, researchers will try to understand symptoms in people with mutations in the C9ORF72 gene. Researchers will study brain function using magnetic resonance imaging (MRI) and magnetic stimulation. Brain and body chemistries in the blood and cerebrospinal fluid also will be studied. Scientists hope to learn how symptoms such as strength, ability to move, thinking and memory change over time.

Sixty-two persons will be enrolled. Participants will have a number of clinical and thinking tests at the first visit and at three follow-up visits. During each visit, physiological testing and imaging will be performed. Blood and cerebrospinal fluid will be collected for testing of C9ORF72 biomarkers. Between study visits, participants’ physical and cognitive status will be assessed through phone interviews.

All study visits will take place at the NIH Clinical Center in Bethesda, MD. The study requires up to four visits to the NIH Clinical Center and three telephone interviews over three years. Duration of the study for participants is three years.

Eligibility Criteria:

INCLUSION CRITERIA: Patients will be included if they:

Are age 18 or older

Have a confirmed repeat expansion in the C9ORF72 gene

EXCLUSION CRITERIA: Patients will be excluded if they:

Have other major neurological or medical diseases that may cause progressive weakness or cognitive dysfunction, such as structural brain or spinal cord disease, metabolic diseases, paraneoplastic syndromes, hereditary diseases, infectious diseases, peripheral neuropathy or radiculopathy or other significant neurological abnormalities.

Require daytime ventilator support at the time of study entry

Are unable to travel to NIH at the time of study entry

Are unwilling to have follow-up visits

Are unable to understand or decline to sign the Informed Consent at the time of study entry. Participants can remain in the study (with DPA consent and participant assent) if they lose consent capacity.

Have unstable medical conditions that, in the opinion of the investigators, prevent safe participation in this study.

Are participating in experimental treatment trials at the time of study entry or plan such participation within 6 months of entry. Patients will not be excluded if they are receiving standard care medications for treatment of ALS and its symptoms, or are participating in non-treatment clinical research studies. Patients will be permitted to participate in experimental treatment trials after the 6 month follow-up visit. Patients with pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments in the eye) will not be excluded but will not undergo magnetic resonance imaging or transcranial magnetic stimulation.